Registry of Ehlers-Danlos Syndrome

NCT04133272 | Recruiting

• 1 other identifier: 21611/2014
• Study Type: observational
• Target: 3,000
• Locations: 1 country
• Sites: 1

Brief Summary

RED is a retrospective and prospective registry, finalized for care and research purposes. It is articulated in main sections - strongly related and mutually dependent on each other - corresponding to different data domains: personal information, clinical data, genetic data, genealogical data, surgeries, etc. This approach has been developed to corroborate and integrate data from different sources and evaluating several aspects of diseases and to correlate genetic background and phenotypic outcomes, in order to better investigate disease pathophysiology. Due to legal requirements, institutional directives and organizational issues, we are unable to include individuals residing outside Italy in the registry at this time. We are currently engaged in the preparation of a recruitment process for individuals residing outside Italy.

Conditions

Ehlers-Danlos Syndrome

Keywords

Disease Registry; Natural History Study; Disease Evolution; Genotype-Phenotype Correlation

Outcome Measures

Primary Outcomes (1)

• Natural History and Epidemiology in terms of clinical, genetic and functional evaluation

  To maintain an established registry in order to assess epidemiology and natural history. Collection of: 1. physical examinations data: assessment of type of the disease (according to Orphanet types) 2. orthopedic and functional data: stature (cm), weight (kg), Beighton score, pain score (numeric scale), presence cardiac lesion (ultrasound) 3. surgical procedures: type, number and site of surgeries disease-related and age at surgeries 4. genetics background: target gene, type of mutation, type of variant detected, clinical significance 5. family history: inheritance in maternal or paternal line 6. treatment information: pharmacological, devices, supplements, and other treatments Clinical, orthopedic, surgical, treatment and functional features are updated at each follow up. Clinical reports, medical charts, genetic report and imaging are the primary sources of data.

  25 years

Secondary Outcomes (1)

• Genotype-Phenotype Correlation among clinical features and molecular background

  25 years

Other Outcomes (1)

• Longitudinal study of disease (including prospective and retrospective data)

  25 years

Study Arms (1)

Ehlers-Danlos Syndrome patients

The group comprises all patients affected by Ehlers-Danlos Syndrome, including prenatal and fetal diagnosis of Ehlers-Danlos Syndrome

Eligibility Criteria

• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Probability Sample

Study Population

Patients affected by Ehlers-Danlos Syndrome. The Registry will include also data on fetuses (prenatal and abortion)

You may qualify if:

• All Ehlers-Danlos Syndrome patients, including prenatal and fetal diagnosis of Ehlers-Danlos Syndrome

You may not qualify if:

• Any condition unrelated to Ehlers-Danlos Syndrome

Sponsors & Collaborators

• Luca Sangiorgi: lead

Study Sites (1)

Irccs Istituto Ortopedico Rizzoli

Bologna, Emilia-Romagna, 40136, Italy

RECRUITING

Related Publications (10)

• Ritelli M, Rovati C, Venturini M, Chiarelli N, Cinquina V, Castori M, Colombi M. Application of the 2017 criteria for vascular Ehlers-Danlos syndrome in 50 patients ascertained according to the Villefranche nosology. Clin Genet. 2020 Feb;97(2):287-295. doi: 10.1111/cge.13653. Epub 2019 Nov 3.

  PMID: 31600821 BACKGROUND

• Ghali N, Sobey G, Burrows N. Ehlers-Danlos syndromes. BMJ. 2019 Sep 18;366:l4966. doi: 10.1136/bmj.l4966. No abstract available.

  PMID: 31533917 BACKGROUND

• Black CM, Gathercole LJ, Bailey AJ, Beighton P. The Ehlers-Danlos syndrome: an analysis of the structure of the collagen fibres of the skin. Br J Dermatol. 1980 Jan;102(1):85-96. doi: 10.1111/j.1365-2133.1980.tb05675.x.

  PMID: 7378285 BACKGROUND

• Beighton P. Ehlers-Danlos syndrome. Ann Rheum Dis. 1970 May;29(3):332-3. doi: 10.1136/ard.29.3.332. No abstract available.

  PMID: 5432600 BACKGROUND

• Benistan K, Gillas F. Pain in Ehlers-Danlos syndromes. Joint Bone Spine. 2020 May;87(3):199-201. doi: 10.1016/j.jbspin.2019.09.011. Epub 2019 Sep 25. No abstract available.

  PMID: 31562935 BACKGROUND

• Hausser I. Diagnosis of Ehlers-Danlos syndrome: data deficiency still does not allow establishment of a complete history of the disease and its pathomechanisms. Br J Dermatol. 2020 Mar;182(3):535-536. doi: 10.1111/bjd.18373. Epub 2019 Aug 20. No abstract available.

  PMID: 31432500 BACKGROUND

• Jesudas R, Chaudhury A, Laukaitis CM. An update on the new classification of Ehlers-Danlos syndrome and review of the causes of bleeding in this population. Haemophilia. 2019 Jul;25(4):558-566. doi: 10.1111/hae.13800. Epub 2019 Jun 10.

  PMID: 31329366 BACKGROUND

• De Baets S, Calders P, Verhoost L, Coussens M, Dewandele I, Malfait F, Vanderstraeten G, Van Hove G, Van de Velde D. Patient perspectives on employment participation in the "hypermobile Ehlers-Danlos syndrome". Disabil Rehabil. 2021 Mar;43(5):668-677. doi: 10.1080/09638288.2019.1636316. Epub 2019 Jul 9.

  PMID: 31287330 BACKGROUND

• Copetti M, Morlino S, Colombi M, Grammatico P, Fontana A, Castori M. Severity classes in adults with hypermobile Ehlers-Danlos syndrome/hypermobility spectrum disorders: a pilot study of 105 Italian patients. Rheumatology (Oxford). 2019 Oct 1;58(10):1722-1730. doi: 10.1093/rheumatology/kez029.

  PMID: 30783660 BACKGROUND

• Mu W, Muriello M, Clemens JL, Wang Y, Smith CH, Tran PT, Rowe PC, Francomano CA, Kline AD, Bodurtha J. Factors affecting quality of life in children and adolescents with hypermobile Ehlers-Danlos syndrome/hypermobility spectrum disorders. Am J Med Genet A. 2019 Apr;179(4):561-569. doi: 10.1002/ajmg.a.61055. Epub 2019 Jan 31.

  PMID: 30703284 BACKGROUND

Related Links

• Institutional webpage of Registries For Rare Hereditary Diseases

Biospecimen

Retention: SAMPLES WITH DNA

Whole peripheral blood, DNA, lymphocytes

MeSH Terms

Conditions

Ehlers-Danlos Syndrome

Condition Hierarchy (Ancestors)

Hemostatic Disorders; Vascular Diseases; Cardiovascular Diseases; Hemorrhagic Disorders; Hematologic Diseases; Hemic and Lymphatic Diseases; Skin Abnormalities; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin Diseases, Genetic; Genetic Diseases, Inborn; Collagen Diseases; Connective Tissue Diseases; Skin and Connective Tissue Diseases; Skin Diseases

Study Officials

• Luca Sangiorgi, MD, PhD, MS

  Istituto Ortopedico Rizzoli

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Marina Mordenti, PhD

CONTACT

+39 05 6366062; registri.malattierare@ior.it

Marcella Lanza, PhD

CONTACT

+39 05 6366169; registri.malattierare@ior.it

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: OTHER
• Target Duration: 25 Years
• Sponsor Type: OTHER
• Responsible Party: SPONSOR INVESTIGATOR
• PI Title: Head of Department of Rare Skeletal Disorders

Study Record Dates

• First Submitted: October 14, 2019
• First Posted: October 21, 2019
• Study Start: June 1, 2014
• Primary Completion (Estimated): June 1, 2026
• Study Completion (Estimated): January 1, 2033
• Last Updated: November 20, 2025

Record last verified: 2025-11

Locations

IT (1)